ライフサイエンスコーパス: nonsyndromic

1 Most cases are sporadic and nonsyndromic.

2 into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs.

3 in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.

4 H mutations have rarely been observed in the nonsyndromic and common form of fibroids; however, loss

5 The vast majority of birth defects are nonsyndromic, and although their etiologies remain mostl

6 1292 and W08-1833) previously diagnosed with nonsyndromic arRP, which cosegregated with the disease a

7 aracterized cohort of three individuals with nonsyndromic ASD sharing common behaviors and three cont

8 neurons and astrocytes from individuals with nonsyndromic ASD using induced pluripotent stem cells.

9 Nonsyndromic atrioventricular septal defects (AVSDs) are

10 the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previ

11 recessive as well as dominant inheritance of nonsyndromic auditory neuropathy.

12 he pejvakin gene PJVK, are known to underlie nonsyndromic auditory neuropathy.

13 that glial dysfunctions could contribute to nonsyndromic autism pathophysiology using induced plurip

14 points of convergence between syndromic and nonsyndromic autism spectrum disorders, we believe there

15 udies have identified at least four loci for nonsyndromic autosomal dominant high myopia at 18p11.31,

16 p and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability

17 tified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with

18 utch origin who was initially diagnosed with nonsyndromic autosomal recessive RP.

19 g in two consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability

20 gulator Wilms' Tumor 1 (WT1) as the cause of nonsyndromic, autosomal dominant FSGS in two Northern Eu

21 domain-containing protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual d

22 ing trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense var

23 ending aorta, similar to the pattern seen in nonsyndromic bicuspid aortic valve, is equally prevalent

24 re but informative mutations associated with nonsyndromic birth defects.

25 rare variants in LRIG2 might be relevant to nonsyndromic bladder disease.

26 re genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together wi

27 Because most nonsyndromic cases of AVSD are sporadic, opportunities f

28 xons of this gene in DNA from a total of 134 nonsyndromic cases.

29 in 75% of individuals, and 85% patients with nonsyndromic CC were found to have likely pathogenic mut

30 stimate that 29.5% of live-born infants with nonsyndromic CCHD in the NBDPS received a diagnosis more

31 Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5

32 ding both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281).

33 be applied toward understanding the basis of nonsyndromic CHD.

34 Mutations in Cxs are the major cause of nonsyndromic childhood deafness, which are mostly found

35 m database was used to extract data of young nonsyndromic children (age </=14 years) who underwent LS

36 5-year survival rate rather than those with nonsyndromic CIDs.

37 Nonsyndromic cleft lip and palate (NS CLP) is a complex

38 Nonsyndromic cleft lip and/or palate (NSCL/P) is a preva

39 Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded

40 several novel and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide

41 udy investigates the genetic contribution to nonsyndromic cleft lip and/or palate through the analysi

42 Previous studies suggest that the risks of nonsyndromic cleft lip with or without cleft palate (CL+

43 Previous studies suggest that the risk of nonsyndromic cleft lip with or without cleft palate (CL+

44 Isolated or nonsyndromic cleft lip with or without cleft palate (CL/

45 Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSC

46 Nonsyndromic cleft lip with or without cleft palate (NSC

47 Nonsyndromic cleft lip with or without cleft palate (nsC

48 loci have been implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSC

49 identified several genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSC

50 in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.

51 Nonsyndromic cleft lip with/without cleft palate (nsCL/P

52 t lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most freq

53 an association of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from A

54 Nonsyndromic cleft palate only (nsCPO) is a facial malfo

55 ent of nsCL/P detectable that is shared with nonsyndromic cleft palate only (nsCPO).

56 Nonsyndromic clefting has been shown to arise through co

57 nts as primary contributory risk alleles for nonsyndromic clefting in humans.

58 To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in

59 nternational cohort to date of children with nonsyndromic clefts and their relatives, as compared wit

60 plausible hypothesis is that the apparently nonsyndromic clefts in these 3 patients might represent

61 nternational cohort to date of children with nonsyndromic clefts, their relatives, and controls, this

62 uary 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potent

63 isease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with

64 ude syndrome and NME2 G71V in a patient with nonsyndromic CLP).

65 ith at least two individuals presenting with nonsyndromic CMI with or without syringomyelia.

66 he frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE).

67 ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such a

68 in whirlin cause Usher syndrome (USH2D) and nonsyndromic congenital deafness (DFNB31).

69 been identified in patients with isolated or nonsyndromic congenital heart defects (CHDs).

70 o have had pregnancies that were affected by nonsyndromic congenital heart defects have alterations i

71 ablish a maternal metabolic risk profile for nonsyndromic congenital heart defects that would enhance

72 c hybridization, 316 children with sporadic, nonsyndromic congenital heart defects, including 76 coar

73 erturbations in PTPN11 function in sporadic, nonsyndromic congenital heart disease.

74 ndition that can occur in both syndromic and nonsyndromic congenital heart disease.

75 used by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment.

76 at this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants id

77 to date, few genes associated with risk for nonsyndromic CP have been characterized.

78 The other half have nonsyndromic CP, and to date, few genes associated with

79 mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.

80 Patients with nonsyndromic craniosynostosis have an increased incidenc

81 -like family peptide receptor 2, in cases of nonsyndromic cryptorchidism are infrequent and of unclea

82 Nonsyndromic cryptorchidism or undescended testis is a s

83 tion of CEACAM16 leads to autosomal dominant nonsyndromic deafness (ADNSHL) at the autosomal dominant

84 1D; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).

85 lindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11).

86 ntegrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1

87 different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited p

88 protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as

89 s for nearly half of all cases of hereditary nonsyndromic deafness cases.

90 gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (

91 tte is a model for studying the mechanism of nonsyndromic deafness DFNB25.

92 r the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringi

93 een discovered, bringing the total number of nonsyndromic deafness genes to 64.

94 halmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like ma

95 Mutations in the OTOF gene cause nonsyndromic deafness in humans, and OTOF knock-out mice

96 n associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide.

97 tation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on ch

98 mutations in other genes that cause USH1 and nonsyndromic deafness may also have distinct effects on

99 ve channel gating; and 4), Cx26V84L in M2, a nonsyndromic deafness mutant, retains normal dye couplin

100 mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with

101 The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was

102 sher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of

103 tients, they provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct

104 tochondrial DNA causes maternally inherited, nonsyndromic deafness, an extreme case of tissue-specifi

105 rnatively, the dfcr mouse may be a model for nonsyndromic deafness, due to the nonpathologic effect o

106 for two loci, DFNB12 and USH1D, which cause nonsyndromic deafness, identifying waltzer as a mouse mo

107 A specific allele, previously reported in nonsyndromic deafness, may be associated with a mild ret

108 ond identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate ge

109 ently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p.

110 of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, spl

111 eles of TBC1D24 can cause either epilepsy or nonsyndromic deafness.

112 ndidate lesion in lhfpl5a predicted to cause nonsyndromic deafness.

113 ost are loss-of-function mutations and cause nonsyndromic deafness.

114 orphic allele of BSND as a cause of apparent nonsyndromic deafness.

115 uences are the basis for either syndromic or nonsyndromic deafness.

116 rtholog of the murine Comt2 gene that causes nonsyndromic deafness.

117 e 22q13 cosegregate with autosomal recessive nonsyndromic deafness.

118 nally transmitted aminoglycoside-induced and nonsyndromic deafness.

119 sponsible for both Usher syndrome and DFNB12 nonsyndromic deafness.

120 g tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness.

121 a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12.

122 Nonsyndromic defects in the urinary tract are the most c

123 mutation, the USH2A mutation associated with nonsyndromic disease, were compared with rates of change

124 V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecular mechanism

125 , 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an

126 been shown to result in autosomal-dominant, nonsyndromic, early-onset deafness.

127 ttaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of >/=10 yea

128 del for the molecular pathogenesis of PS and nonsyndromic EVA that involves SLC26A4 and its transcrip

129 In nine patients with PS or nonsyndromic EVA, a novel c.-103T-->C mutation in this r

130 Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.

131 nital ichthyosiform erythroderma (NCIE) is a nonsyndromic form of autosomal recessive congenital icht

132 2 mutations ranging from PHARC syndrome to a nonsyndromic form of retinal degeneration.

133 Even nonsyndromic forms can be inherited in an autosomal domi

134 IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CLP).

135 We show how mouse models for nonsyndromic forms of deafness involving genes encoding

136 mutations in a gene can cause syndromic and nonsyndromic forms of deafness, as well as progressive a

137 T5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

138 susceptibility in a subset of patients with nonsyndromic forms of familial colorectal neoplasia.

139 tardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.

140 genetic studies support heritability of the nonsyndromic forms of this condition.

141 include several eye disorders, syndromic and nonsyndromic forms of X-linked mental retardation (XLMR)

142 egulation of podocyte homeostasis and causes nonsyndromic FSGS.

143 es in the identification of the causation of nonsyndromic genetic cardiomyopathies.

144 ify the pathogenic substrate responsible for nonsyndromic, genotype-negative, autosomal dominant LQTS

145 at differed from the classical syndromic and nonsyndromic groups and that was defined by multiple mal

146 nty-eight patients diagnosed with apparently nonsyndromic HCM aged </=13 years underwent clinical and

147 ation Chinese family with autosomal dominant nonsyndromic hearing impairment (ADNSHI) was enrolled in

148 S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on

149 a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI), was mapped to

150 rge Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical li

151 7, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL).

152 ed as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting thes

153 nction protein known as tricellulin, lead to nonsyndromic hearing loss (DFNB49).

154 iant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disor

155 The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis

156 dentified in people with profound congenital nonsyndromic hearing loss (NSHL).

157 onnexin-deficient mice that are models DFNB1 nonsyndromic hearing loss and deafness.

158 be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vesti

159 tions of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human c

160 kindred, dominant, adult-onset, progressive nonsyndromic hearing loss DFNA51 is due to a tandem inve

161 d identification of the causative allele for nonsyndromic hearing loss DFNB82 in a consanguineous Pal

162 ated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91).

163 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans.

164 as a candidate gene for autosomal recessive nonsyndromic hearing loss locus 17 (DFNB17).

165 ous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromoso

166 ional 40 consanguineous families segregating nonsyndromic hearing loss to the DFNB39 locus and refine

167 consanguineous family segregating recessive, nonsyndromic hearing loss was used to make a library of

168 A gene causing autosomal-recessive, nonsyndromic hearing loss, DFNB39, was previously mapped

169 have also been found to cause low-frequency nonsyndromic hearing loss, progressive hearing loss, and

170 athogenic for dominant or recessive forms of nonsyndromic hearing loss, syndromic hearing loss, and,

171 DFNA23, a novel locus for autosomal dominant nonsyndromic hearing loss, was identified in a Swiss Ger

172 didate gene for genetic testing for X-linked nonsyndromic hearing loss.

173 the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss.

174 The two variants both segregated with the nonsyndromic-hearing-impairment phenotype within the thr

175 the distribution to 1007 equally classified nonsyndromic heart defects of patients registered by EUR

176 h CHD7 mutations compared with patients with nonsyndromic heart defects.

177 DFNA14, responsible for autosomal dominant, nonsyndromic hereditary hearing impairment.

178 inositol lipid phosphatase, cause recessive, nonsyndromic, hereditary hearing loss with associated ve

179 Several nonsyndromic high-grade myopia loci have been mapped pri

180 Nonsyndromic, high-grade myopia is highly heritable, and

181 ed positional candidate genes in 54 uncloned nonsyndromic human deafness intervals.

182 (Cx26) and Cx30 are the most common cause of nonsyndromic inherited deafness in humans.

183 tructural, and molecular genetic findings in nonsyndromic inherited retinal degenerations associated

184 inal disease are increasingly found to cause nonsyndromic inherited retinal degenerations.

185 cently also been identified in patients with nonsyndromic inherited retinal degenerations.

186 fied a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with var

187 ve external ophthalmoplegia, cardiomyopathy, nonsyndromic intellectual disability, apoptosis, and the

188 e identified a large kindred that segregates nonsyndromic intracranial aneurysm as a dominant trait w

189 M6 mutations as underlying genetic causes of nonsyndromic isolated PDA in humans and implicates the w

190 Group 1 was nonsyndromic, isolated BA (without major malformations)

191 Most orofacial clefts are nonsyndromic, isolated defects, which can be separated i

192 TPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML).

193 ailable means of diagnosis for syndromic and nonsyndromic left outflow tract abnormalities and implic

194 anding of the genetics of both syndromic and nonsyndromic left outflow tract disorders is hoped to le

195 ination of a severe and a mild variant cause nonsyndromic macular dystrophy with central cone involve

196 Heritable forms of nonsyndromic male infertility can arise from single-gene

197 f seven recently identified genes mutated in nonsyndromic mental retardation are involved in Rho fami

198 rlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mut

199 tal disorders including Rett syndrome (RTT), nonsyndromic mental retardation, learning disability, an

200 as been linked to severe autosomal recessive nonsyndromic mental retardation.

201 d a missense mutation in another family with nonsyndromic mental retardation.

202 phenotype that approaches that of apparently nonsyndromic mental retardation.

203 uronal connectivity and cognitive defects in nonsyndromic mental retardation.

204 Nonsyndromic mitral valve prolapse (MVP) is a common deg

205 mutations are one of the few known causes of nonsyndromic monogenic obesity in both humans and mice.

206 n pedigrees (UR006 and UR077) with isolated, nonsyndromic myopia were studied, in which the condition

207 uman preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes.

208 often unidentifiable causes in patients with nonsyndromic, nonchromosomal forms of HPE.

209 erization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis.

210 niosynostosis, but the majority of cases are nonsyndromic, occurring as isolated defects.

211 Nonsyndromic oculocutaneous Albinism (nsOCA) is clinical

212 thors also directly sequenced 7 genes in 184 nonsyndromic OFC (NSOFC) cases and 96 controls from Ghan

213 ated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 patients wi

214 Thirty-six individuals diagnosed with nonsyndromic or syndromic bilateral congenital cataract

215 hese findings indicate that individuals with nonsyndromic oral clefts and their families do not have

216 uence variants at the TGFA genetic locus and nonsyndromic oral clefts, 47 studies have been carried o

217 tent with the oligogenic model suggested for nonsyndromic oral clefts.

218 w functional variants identified to date for nonsyndromic orofacial clefting.

219 Nonsyndromic orofacial clefts are a common complex birth

220 Nonsyndromic orofacial clefts are one of the most common

221 genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple s

222 ulti-transmembrane domain protein, result in nonsyndromic otoconial agenesis and a severe balance dis

223 scribe a family that was ascertained to have nonsyndromic otosclerosis but was subsequently found to

224 ized, (2) patients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild f

225 le mice lacking Nobox in a manner similar to nonsyndromic ovarian failure in women.

226 rst time a role of a mutant G-protein in the nonsyndromic pacemaker disease because of GIRK channel a

227 Nonsyndromic patent ductus arteriosus (PDA) is a common

228 the pathogenesis of HH lesions in sporadic, nonsyndromic patients with HH and intractable epilepsy.

229 the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the sam

230 imately half of all cases of human autosomal nonsyndromic prelingual deafness.

231 ion in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment

232 onsanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we iden

233 The influence of genetic predisposition on nonsyndromic primary rhegmatogenous retinal detachment (

234 In an extended Israeli family, nonsyndromic progressive hearing loss is caused by three

235 Gene mutations that cause nonsyndromic progressive hearing loss with early onset m

236 e a type of delayed onset autosomal dominant nonsyndromic progressive hearing loss, DFNA20/26.

237 at myosin IIIa, which has been implicated in nonsyndromic progressive hearing loss, is localized at s

238 nnel result in an autosomal dominant form of nonsyndromic progressive high frequency hearing loss.

239 rity of USH causative genes also involved in nonsyndromic recessive deafness (DFNB).

240 ations in the human pejvakin gene that cause nonsyndromic recessive deafness (DFNB59) by affecting th

241 y identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large cons

242 The gene causative for the human nonsyndromic recessive form of deafness DFNB22 encodes o

243 gesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene ident

244 mutants provide valuable models for studying nonsyndromic recessive sensorineural hearing loss (DFNB7

245 inition of human CalDAG-GEFI deficiency as a nonsyndromic, recessive PFD associated with a moderate o

246 These data show that autosomal dominant nonsyndromic renal hypodysplasia and associated urinary

247 ing, and genetic features of CLN3-associated nonsyndromic retinal degeneration.

248 s of 10 patients who presented with isolated nonsyndromic retinal disease and mutations in CLN3.

249 BS affect only photoreceptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issu

250 Biedl syndrome (BBS), is sufficient to cause nonsyndromic retinitis pigmentosa (RP).

251 very similar to those in previous studies of nonsyndromic retinitis pigmentosa (RP).

252 ur study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet ano

253 ntified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa.

254 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate

255 ariants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels,

256 In a single, one-generation, nonsyndromic RP family, we have identified a gene, dehyd

257 Screening of our nonsyndromic RP patient cohort revealed an additional in

258 age, 54 years vs. 72 years; P < 0.001) than nonsyndromic RP patients.

259 a frequent cause of Usher syndrome, but also nonsyndromic RP.

260 Usher syndrome results were like those in nonsyndromic RP.

261 ual prognosis in Usher syndrome type IIa and nonsyndromic RP.

262 risk of visual impairment than those without nonsyndromic RP.

263 the first genome-wide association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130

264 re found in several human diseases including nonsyndromic sensorineural deafness, Charcot-Marie-Tooth

265 Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence

266 ped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) t

267 in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss.

268 ed in individuals with recessively inherited nonsyndromic severe myopia.

269 elia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar kera

270 indreds ascertained via an index case with a nonsyndromic solitary kidney or renal hypodysplasia.

271 21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases.

272 This paper reports linkage analysis of nonsyndromic strabismus.

273 tools of genetic epidemiology used to study nonsyndromic structural birth defects, many new approach

274 key to unraveling the complex etiologies of nonsyndromic structural birth defects.

275 akistani families, some members of which had nonsyndromic stuttering and in unrelated case and contro

276 Susceptibility to nonsyndromic stuttering is associated with variations in

277 tumors, including samples from syndromic and nonsyndromic subjects, and these levels correlated stron

278 ative survival and predictors of outcomes in nonsyndromic TAA (NS-TAA) are incompletely defined compa

279 A third locus for nonsyndromic TAAD was mapped to 3p24-25 and termed the T

280 ventricular myocardium from 16 infants with nonsyndromic tetralogy of Fallot (TOF) without a 22q11.2

281 ant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO.

282 -15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and sugg

283 ons are the first gene defects identified in nonsyndromic TOF patients.

284 g the PTPN11 gene contributes to the risk of nonsyndromic TOF.

285 Isolated or nonsyndromic tooth agenesis or hypodontia is the most co

286 Patients with a nonsyndromic USH2A mutation have the same retinal diseas

287 markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroret

288 ssess the role of FH and the linked genes in nonsyndromic uterine fibroids, we explored a two-megabas

289 such changes in MFS and perhaps more common nonsyndromic variants of mitral valve disease.

290 ome linkage and association scan in primary, nonsyndromic vesicoureteric reflux and reflux nephropath

291 c bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a p

292 e complex nature of the genetics of primary, nonsyndromic VUR.

293 and chromosome regions involved in primary, nonsyndromic VUR.

294 Patient categorization (syndromic vs nonsyndromic) was done via blinded medical chart review

295 Nonsyndromic WH is known to be inherited as either an au

296 ic diseases, or without associated findings (nonsyndromic WH).

297 We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 1

298 X chromosome in 208 unrelated families with nonsyndromic X-linked intellectual disability, we identi

299 ly expressed scaffold recently implicated in nonsyndromic, X-linked intellectual disability (NS-XLID)

300 activity with possible clinical relevance to nonsyndromic XLID.